LOCUS       NM_004369              10532 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens collagen type VI alpha 3 chain (COL6A3), transcript
            variant 1, mRNA.
ACCESSION   NM_004369
VERSION     NM_004369.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10532)
  AUTHORS   Ho,C.M., Yen,T.L., Chang,T.H. and Huang,S.H.
  TITLE     COL6A3 Exosomes Promote Tumor Dissemination and Metastasis in
            Epithelial Ovarian Cancer
  JOURNAL   Int J Mol Sci 25 (15), 8121 (2024)
   PUBMED   39125689
  REMARK    GeneRIF: COL6A3 Exosomes Promote Tumor Dissemination and Metastasis
            in Epithelial Ovarian Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10532)
  AUTHORS   Savic,R., Yang,J., Koplev,S., An,M.C., Patel,P.L., O'Brien,R.N.,
            Dubose,B.N., Dodatko,T., Rogatsky,E., Sukhavasi,K., Ermel,R.,
            Ruusalepp,A., Houten,S.M., Kovacic,J.C., Stewart,A.F., Yohn,C.B.,
            Schadt,E.E., Laberge,R.M., Bjorkegren,J.L.M., Tu,Z. and Argmann,C.
  TITLE     Integration of transcriptomes of senescent cell models with
            multi-tissue patient samples reveals reduced COL6A3 as an inducer
            of senescence
  JOURNAL   Cell Rep 42 (11), 113371 (2023)
   PUBMED   37938972
  REMARK    GeneRIF: Integration of transcriptomes of senescent cell models
            with multi-tissue patient samples reveals reduced COL6A3 as an
            inducer of senescence.
REFERENCE   3  (bases 1 to 10532)
  AUTHORS   Arnoux,B., Merigeau,K., Saludjian,P., Norris,F., Norris,K.,
            Bjorn,S., Olsen,O., Petersen,L. and Ducruix,A.
  TITLE     The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of
            human type VI collagen
  JOURNAL   J Mol Biol 246 (5), 609-617 (1995)
   PUBMED   7533217
REFERENCE   4  (bases 1 to 10532)
  AUTHORS   Foley,A.R., Mohassel,P., Donkervoort,S., Bolduc,V. and
            Bonnemann,C.G.
  TITLE     Collagen VI-Related Dystrophies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301676
REFERENCE   5  (bases 1 to 10532)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   6  (bases 1 to 10532)
  AUTHORS   Zanussi,S., Doliana,R., Segat,D., Bonaldo,P. and Colombatti,A.
  TITLE     The human type VI collagen gene. mRNA and protein variants of the
            alpha 3 chain generated by alternative splicing of an additional
            5-end exon
  JOURNAL   J Biol Chem 267 (33), 24082-24089 (1992)
   PUBMED   1339440
REFERENCE   7  (bases 1 to 10532)
  AUTHORS   Chu,M.L., Zhang,R.Z., Pan,T.C., Stokes,D., Conway,D., Kuo,H.J.,
            Glanville,R., Mayer,U., Mann,K., Deutzmann,R. et al.
  TITLE     Mosaic structure of globular domains in the human type VI collagen
            alpha 3 chain: similarity to von Willebrand factor, fibronectin,
            actin, salivary proteins and aprotinin type protease inhibitors
  JOURNAL   EMBO J 9 (2), 385-393 (1990)
   PUBMED   1689238
REFERENCE   8  (bases 1 to 10532)
  AUTHORS   Chu,M.L., Conway,D., Pan,T.C., Baldwin,C., Mann,K., Deutzmann,R.
            and Timpl,R.
  TITLE     Amino acid sequence of the triple-helical domain of human collagen
            type VI
  JOURNAL   J Biol Chem 263 (35), 18601-18606 (1988)
   PUBMED   3198591
REFERENCE   9  (bases 1 to 10532)
  AUTHORS   Weil,D., Mattei,M.G., Passage,E., N'Guyen,V.C., Pribula-Conway,D.,
            Mann,K., Deutzmann,R., Timpl,R. and Chu,M.L.
  TITLE     Cloning and chromosomal localization of human genes encoding the
            three chains of type VI collagen
  JOURNAL   Am J Hum Genet 42 (3), 435-445 (1988)
   PUBMED   3348212
REFERENCE   10 (bases 1 to 10532)
  AUTHORS   Chu,M.L., Mann,K., Deutzmann,R., Pribula-Conway,D., Hsu-Chen,C.C.,
            Bernard,M.P. and Timpl,R.
  TITLE     Characterization of three constituent chains of collagen type VI by
            peptide sequences and cDNA clones
  JOURNAL   Eur J Biochem 168 (2), 309-317 (1987)
   PUBMED   3665927
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X52022.1, AK308451.1,
            BX647500.1, AK092021.1, BC033174.1 and BU687672.1.
            
            On Aug 31, 2019 this sequence version replaced NM_004369.3.
            
            Summary: This gene encodes the alpha-3 chain, one of the three
            alpha chains of type VI collagen, a beaded filament collagen found
            in most connective tissues. The alpha-3 chain of type VI collagen
            is much larger than the alpha-1 and -2 chains. This difference in
            size is largely due to an increase in the number of subdomains,
            similar to von Willebrand Factor type A domains, that are found in
            the amino terminal globular domain of all the alpha chains. These
            domains have been shown to bind extracellular matrix proteins, an
            interaction that explains the importance of this collagen in
            organizing matrix components. Mutations in the type VI collagen
            genes are associated with Bethlem myopathy, a rare autosomal
            dominant proximal myopathy with early childhood onset. Mutations in
            this gene are also a cause of Ullrich congenital muscular
            dystrophy, also referred to as Ullrich scleroatonic muscular
            dystrophy, an autosomal recessive congenital myopathy that is more
            severe than Bethlem myopathy. Multiple transcript variants have
            been identified, but the full-length nature of only some of these
            variants has been described. [provided by RefSeq, Jun 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the full-length isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X52022.1, GQ891485.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295550.9/ ENSP00000295550.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1123              X52022.1           14-1136
            1124-1757           AK308451.1         1124-1757
            1758-2862           BX647500.1         1145-2249
            2863-4527           AK092021.1         1611-3275
            4528-6992           X52022.1           4541-7005
            6993-10440          BC033174.1         159-3606
            10441-10532         BU687672.1         25-116              c
FEATURES             Location/Qualifiers
     source          1..10532
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..10532
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /note="collagen type VI alpha 3 chain"
                     /db_xref="GeneID:1293"
                     /db_xref="HGNC:HGNC:2213"
                     /db_xref="MIM:120250"
     exon            1..212
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            213..333
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     CDS             243..9776
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; collagen VI, alpha-3 polypeptide; collagen
                     alpha-3(VI) chain; collagen, type VI, alpha 3; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="collagen alpha-3(VI) chain isoform 1 precursor"
                     /protein_id="NP_004360.2"
                     /db_xref="CCDS:CCDS33412.1"
                     /db_xref="GeneID:1293"
                     /db_xref="HGNC:HGNC:2213"
                     /db_xref="MIM:120250"
                     /translation="MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLV
                     DSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEV
                     LSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLAL
                     PSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVH
                     SSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGT
                     QQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHF
                     TRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHI
                     ATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLV
                     DGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREV
                     ITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEIS
                     QPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPL
                     RTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQ
                     FSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIR
                     EHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYL
                     MDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVR
                     DFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKAL
                     NLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFI
                     FQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDV
                     VFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNK
                     QDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGD
                     DVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISER
                     VTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYL
                     DVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS
                     RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEEL
                     VKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAAD
                     IVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYR
                     SQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKS
                     QDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIM
                     NSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDT
                     VYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHL
                     RVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSE
                     EVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILG
                     FDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEA
                     FDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGD
                     LADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYE
                     LAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERG
                     PPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGN
                     PGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGG
                     PGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGIS
                     GPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGR
                     RGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPA
                     GPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMR
                     DVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVAL
                     TSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGI
                     TPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPS
                     CGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPD
                     PKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGT
                     RALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFV
                     VLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYL
                     SPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTT
                     TKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKP
                     VAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITE
                     NSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVC
                     YLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDE
                     GTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMG
                     T"
     exon            334..951
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1554
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..2139
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            2140..2739
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            2740..3312
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            3313..3921
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            3922..4527
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            4528..5142
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            5143..5742
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            5743..6080
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6081..6159
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6160..6305
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6306..6398
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6399..6452
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6453..6524
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6525..6551
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6552..6596
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6597..6650
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6651..6713
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6714..6779
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6780..6833
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6834..6869
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6870..6932
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6933..6995
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            6996..7058
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7059..7121
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7122..7172
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7173..7208
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7209..7271
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7272..7334
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7335..7367
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7368..7404
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7405..7416
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7417..7910
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            7911..8007
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            8008..8706
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            8707..8809
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            8810..9207
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            9208..9471
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            9472..9570
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            9571..9735
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     exon            9736..10532
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      10512..10517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /note="hexamer: AATAAA"
     polyA_site      10532
                     /gene="COL6A3"
                     /gene_synonym="BTHLM1; BTHLM1C; DYT27; UCMD1; UCMD1C"
                     /note="major polyA site"
ORIGIN      
        1 agtcttccac caaaggccgt tcagttctcc tgggctccag cctcctgcaa ggactgcaag
       61 agttttcctc cgcagctctg agtctccact tttttggtgg agaaaggctg caaaaagaaa
      121 aagagacgca gtgagtggga aaagtatgca tcctattcaa acctaattga atcgaggagc
      181 ccagggacac acgccttcag gtttgctcag gggttcatat ttggtgctta gacaaattca
      241 aaatgaggaa acatcggcac ttgcccttag tggccgtctt ttgcctcttt ctctcaggct
      301 ttcctacaac tcatgcccag cagcagcaag cagatgtcaa aaatggtgcg gctgctgata
      361 taatatttct agtggattcc tcttggacca ttggagagga acatttccaa cttgttcgag
      421 agtttctata tgatgttgta aaatccttag ctgtgggaga aaatgatttc cattttgctc
      481 tggtccagtt caacggaaac ccacataccg agttcctgtt aaatacgtat cgtactaaac
      541 aagaagtcct ttctcatatt tccaacatgt cttatattgg gggaaccaat cagactggaa
      601 aaggattaga atacataatg caaagccacc tcaccaaggc tgctggaagc cgggccggtg
      661 acggagtccc tcaggttatc gtagtgttaa ctgatggaca ctcgaaggat ggccttgctc
      721 tgccctcagc ggaacttaag tctgctgatg ttaacgtgtt tgcaattgga gttgaggatg
      781 cagatgaagg agcgttaaaa gaaatagcaa gtgaaccgct caatatgcat atgttcaacc
      841 tagagaattt tacctcactt catgacatag taggaaactt agtgtcctgt gtgcattcat
      901 ccgtgagtcc agaaagggct ggggacacgg aaacccttaa agacatcaca gcacaagact
      961 ctgctgacat tattttcctt attgatggat caaacaacac cggaagtgtc aatttcgcag
     1021 tcattctcga cttccttgta aatctccttg agaaactccc aattggaact cagcagatcc
     1081 gagtgggggt ggtccagttt agcgatgagc ccagaaccat gttctccttg gacacctact
     1141 ccaccaaggc ccaggttctg ggtgcagtga aagccctcgg gtttgctggt ggggagttgg
     1201 ccaatatcgg cctcgccctt gatttcgtgg tggagaacca cttcacccgg gcagggggca
     1261 gccgcgtgga ggaaggggtt ccccaggtgc tggtcctcat aagtgccggg ccttctagtg
     1321 acgagattcg ctacggggtg gtagcactga agcaggctag cgtgttctca ttcggccttg
     1381 gagcccaggc cgcctccagg gcagagcttc agcacatagc taccgatgac aacttggtgt
     1441 ttactgtccc ggaattccgt agctttgggg acctccagga gaaattactg ccgtacattg
     1501 ttggcgtggc ccaaaggcac attgtcttga aaccgccaac cattgtcaca caagtcattg
     1561 aagtcaacaa gagagacata gtcttcctgg tggatggctc atctgcactg ggactggcca
     1621 acttcaatgc catccgagac ttcattgcta aagtcatcca gaggctggaa atcggacagg
     1681 atcttatcca ggtggcagtg gcccagtatg cagacactgt gaggcctgaa ttttatttca
     1741 atacccatcc aacaaaaagg gaagtcataa ccgctgtgcg gaaaatgaag cccctggacg
     1801 gctcggccct gtacacgggc tctgctctag actttgttcg taacaaccta ttcacgagtt
     1861 cagccggcta ccgggctgcc gaggggattc ctaagctttt ggtgctgatc acaggtggta
     1921 agtccctaga tgaaatcagc cagcctgccc aggagctgaa gagaagcagc ataatggcct
     1981 ttgccattgg gaacaagggt gccgatcagg ctgagctgga agagatcgct ttcgactcct
     2041 ccctggtgtt catcccagct gagttccgag ccgccccatt gcaaggcatg ctgcctggct
     2101 tgctggcacc tctcaggacc ctctctggaa cccctgaagt tcactcaaac aaaagggata
     2161 tcatctttct tttggatgga tcagccaacg ttggaaaaac caatttccct tatgtgcgcg
     2221 actttgtaat gaacctagtt aacagccttg atattggaaa tgacaatatt cgtgttggtt
     2281 tagtgcaatt tagtgacact cctgtaacgg agttctcttt aaacacatac cagaccaagt
     2341 cagatatcct tggtcatctg aggcagctgc agctccaggg aggttcgggc ctgaacacag
     2401 gctcagccct aagctatgtc tatgccaacc acttcacgga agctggcggc agcaggatcc
     2461 gtgaacacgt gccgcagctc ctgcttctgc tcacagctgg gcagtctgag gactcctatt
     2521 tgcaagctgc caacgccttg acacgcgcgg gcatcctgac tttttgtgtg ggagctagcc
     2581 aggcgaataa ggcagagctt gagcagattg cttttaaccc aagcctggtg tatctcatgg
     2641 atgatttcag ctccctgcca gctttgcctc agcagctgat tcagccccta accacatatg
     2701 ttagtggagg tgtggaggaa gtaccactcg ctcagccaga gagcaagcga gacattctgt
     2761 tcctctttga cggctcagcc aatcttgtgg gccagttccc tgttgtccgt gactttctct
     2821 acaagattat cgatgagctc aatgtgaagc cagaggggac ccgaattgcg gtggctcagt
     2881 acagcgatga tgtcaaggtg gagtcccgtt ttgatgagca ccagagtaag cctgagatcc
     2941 tgaatcttgt gaagagaatg aagatcaaga cgggcaaagc cctcaacctg ggctacgcgc
     3001 tggactatgc acagaggtac atttttgtga agtctgctgg cagccggatc gaggatggag
     3061 tgcttcagtt cctggtgctg ctggtcgcag gaaggtcatc tgaccgtgtg gatgggccag
     3121 caagtaacct gaagcagagt ggggttgtgc ctttcatctt ccaagccaag aacgcagacc
     3181 ctgctgagtt agagcagatc gtgctgtctc cagcgtttat cctggctgca gagtcgcttc
     3241 ccaagattgg agatcttcat ccacagatag tgaatctctt aaaatcagtg cacaacggag
     3301 caccagcacc agtttcaggt gaaaaggacg tggtgtttct gcttgatggc tctgagggcg
     3361 tcaggagcgg cttccctctg ttgaaagagt ttgtccagag agtggtggaa agcctggatg
     3421 tgggccagga ccgggtccgc gtggccgtgg tgcagtacag cgaccggacc aggcccgagt
     3481 tctacctgaa ttcatacatg aacaagcagg acgtcgtcaa cgctgtccgc cagctgaccc
     3541 tgctgggagg gccgaccccc aacaccgggg ccgccctgga gtttgtcctg aggaacatcc
     3601 tggtcagctc tgcgggaagc aggataacag aaggtgtgcc ccagctgctg atcgtcctca
     3661 cggccgacag gtctggggat gatgtgcgga acccctccgt ggtcgtgaag aggggtgggg
     3721 ctgtgcccat tggcattggc atcgggaacg ctgacatcac agagatgcag accatctcct
     3781 tcatcccgga ctttgccgtg gccattccca cctttcgcca gctggggacc gtccaacagg
     3841 tcatctctga gagggtgacc cagctcaccc gcgaggagct gagcaggctg cagccggtgt
     3901 tgcagcctct accgagccca ggtgttggtg gcaagaggga cgtggtcttt ctcatcgatg
     3961 ggtcccaaag tgccgggcct gagttccagt acgttcgcac cctcatagag aggctggttg
     4021 actacctgga cgtgggcttt gacaccaccc gggtggctgt catccagttc agcgatgacc
     4081 ccaaggtgga gttcctgctg aacgcccatt ccagcaagga tgaagtgcag aacgcggtgc
     4141 agcggctgag gcccaaggga gggcggcaga tcaacgtggg caatgccctg gagtacgtgt
     4201 ccaggaacat cttcaagagg cccctgggga gccgcattga agagggcgtc ccgcagttcc
     4261 tggtcctcat ctcgtctgga aagtctgacg atgaggtgga cgacccggcg gtggagctca
     4321 agcagtttgg cgtggcccct ttcacgatcg ccaggaacgc agaccaggag gagctggtga
     4381 agatctcgct gagccccgaa tatgtgttct cggtgagcac cttccgggag ctgcccagcc
     4441 tggagcagaa actgctgacg cccatcacga ccctgacctc agagcagatc cagaagctct
     4501 tagccagcac tcgctatcca cctccagcag ttgagagtga tgctgcagac attgtctttc
     4561 tgatcgacag ctctgaggga gttaggccag atggctttgc acatattcga gattttgtta
     4621 gcaggattgt tcgaagactc aacatcggcc ccagtaaagt gagagttggg gtcgtgcagt
     4681 tcagcaatga tgtcttccca gaattctatc tgaaaaccta cagatcccag gccccggtgc
     4741 tggacgccat acggcgcctg aggctcagag gggggtcccc actgaacact ggcaaggctc
     4801 tcgaatttgt ggcaagaaac ctctttgtta agtctgcggg gagtcgcata gaagacgggg
     4861 tgccccaaca cctggtcctg gtcctgggtg gaaaatccca ggacgatgtg tccaggttcg
     4921 cccaggtgat ccgttcctcg ggcattgtga gtttaggggt aggagaccgg aacatcgaca
     4981 gaacagagct gcagaccatc accaatgacc ccagactggt cttcacagtg cgagagttca
     5041 gagagcttcc caacatagaa gaaagaatca tgaactcgtt tggaccctcc gcagccactc
     5101 ctgcacctcc aggggtggac acccctcctc cttcacggcc agagaagaag aaagcagaca
     5161 ttgtgttcct gttggatggt tccatcaact tcaggaggga cagtttccag gaagtgcttc
     5221 gttttgtgtc tgaaatagtg gacacagttt atgaagatgg cgactccatc caagtggggc
     5281 ttgtccagta caactctgac cccactgacg aattcttcct gaaggacttc tctaccaaga
     5341 ggcagattat tgacgccatc aacaaagtgg tctacaaagg gggaagacac gccaacacta
     5401 aggtgggcct tgagcacctg cgggtaaacc actttgtgcc tgaggcaggc agccgcctgg
     5461 accagcgggt ccctcagatt gcctttgtga tcacgggagg aaagtcggtg gaagatgcac
     5521 aggatgtgag cctggccctc acccagaggg gggtcaaagt gtttgctgtt ggagtgagga
     5581 atatcgactc ggaggaggtt ggaaagatag cgtccaacag cgccacagcg ttccgcgtgg
     5641 gcaacgtcca ggagctgtcc gaactgagcg agcaagtttt ggaaactttg catgatgcga
     5701 tgcatgaaac cctttgccct ggtgtaactg atgctgccaa agcttgtaat ctggatgtga
     5761 ttctggggtt tgatggttct agagaccaga atgtttttgt ggcccagaag ggcttcgagt
     5821 ccaaggtgga cgccatcttg aacagaatca gccagatgca cagggtcagc tgcagcggtg
     5881 gccgctcgcc caccgtgcgt gtgtcagtgg tggccaacac gccctcgggc ccggtggagg
     5941 cctttgactt tgacgagtac cagccagaga tgctcgagaa gttccggaac atgcgcagcc
     6001 agcaccccta cgtcctcacg gaggacaccc tgaaggtcta cctgaacaag ttcagacagt
     6061 cctcgccgga cagcgtgaag gtggtcattc attttactga tggagcagac ggagatctgg
     6121 ctgatttaca cagagcatct gagaacctcc gccaagaagg agtccgtgcc ttgatcctgg
     6181 tgggccttga acgagtggtc aacttggagc ggctaatgca tctggagttt gggcgagggt
     6241 ttatgtatga caggcccctg aggcttaact tgctggactt ggattatgaa ctagcggagc
     6301 agcttgacaa cattgccgag aaagcttgct gtggggttcc ctgcaagtgc tctgggcaga
     6361 ggggagaccg cgggcccatc ggcagcatcg ggccaaaggg tattcctgga gaagacggct
     6421 accgaggcta tcctggtgat gagggtggac ccggtgagcg tggtccgcct ggtgtgaacg
     6481 gcactcaagg tttccagggc tgcccgggcc agagaggagt aaagggctct cggggattcc
     6541 caggagagaa gggcgaagta ggagaaattg gactggatgg tctggatggt gaagatggag
     6601 acaaaggatt gcctggttct tctggagaga aagggaatcc tggaagaagg ggtgataaag
     6661 gacctcgagg agagaaagga gaaagaggag atgttgggat tcgaggggac ccgggtaacc
     6721 caggacaaga cagccaggag agaggaccca aaggagaaac cggtgacctc ggccccatgg
     6781 gtgtcccagg gagagatgga gtacctggag gacctggaga aactgggaag aatggtggct
     6841 ttggccgaag gggacccccc ggagctaagg gcaacaaggg cggtcctggc cagccgggct
     6901 ttgagggaga gcaggggacc agaggtgcac agggcccagc tggtcctgct ggtcctccag
     6961 ggctgatagg agaacaaggc atttctggac ctcggggaag cggaggtgcc gctggtgctc
     7021 ctggagaacg aggcagaacc ggtccactgg gaagaaaggg tgagcccgga gagccaggac
     7081 caaaaggagg aatcgggaac cggggccctc gtggggagac gggagatgac gggagagacg
     7141 gagttggcag tgaaggacgc agaggcaaaa aaggagaaag aggattccct ggatacccag
     7201 gaccaaaggg taacccaggt gaacctgggc taaatggaac aacaggaccc aaaggcatca
     7261 gaggccgaag gggaaattcg ggacctccag ggatagttgg acagaaggga gaccctggct
     7321 acccaggacc agctggtccc aagggcaaca ggggcgactc catcgatcaa tgtgccctca
     7381 tccaaagcat caaagataaa tgcccttgct gttacgggcc cctggagtgc cccgtcttcc
     7441 caacagaact agcctttgct ttagacacct ctgagggagt caaccaagac actttcggcc
     7501 ggatgcgaga tgtggtcttg agtattgtga atgacctgac cattgctgag agcaactgcc
     7561 cacggggggc ccgggtggct gtggtcacct acaacaacga ggtgaccacg gagatccggt
     7621 ttgctgactc caagaggaag tcggtcctcc tggacaagat taagaacctt caggtggctc
     7681 tgacatccaa acagcagagt ctggagactg ccatgtcgtt tgtggccagg aacacattta
     7741 agcgtgtgag gaacggattc ctaatgagga aagtggctgt tttcttcagc aacacaccca
     7801 caagagcatc cccacagctc agagaggctg tgctcaagct ctcagatgcg gggatcaccc
     7861 ccttgttcct tacaaggcag gaagaccggc agctcatcaa cgctttgcag atcaataaca
     7921 cagcagtggg gcatgcgctt gtcctgcctg cagggagaga cctcacagac ttcctggaga
     7981 atgtcctcac gtgtcatgtt tgcttggaca tctgcaacat cgacccatcc tgtggatttg
     8041 gcagttggag gccttccttc agggacagga gagcggcagg gagcgatgtg gacatcgaca
     8101 tggctttcat cttagacagc gctgagacca ccaccctgtt ccagttcaat gagatgaaga
     8161 agtacatagc gtacctggtc agacaactgg acatgagccc agatcccaag gcctcccagc
     8221 acttcgccag agtggcagtt gtgcagcacg cgccctctga gtccgtggac aatgccagca
     8281 tgccacctgt gaaggtggaa ttctccctga ctgactatgg ctccaaggag aagctggtgg
     8341 acttcctcag caggggaatg acacagttgc agggaaccag ggccttaggc agtgccattg
     8401 aatacaccat agagaatgtc tttgaaagtg ccccaaaccc acgggacctg aaaattgtgg
     8461 tcctgatgct gacgggcgag gtgccggagc agcagctgga ggaggcccag agagtcatcc
     8521 tgcaggccaa atgcaagggc tacttcttcg tggtcctggg cattggcagg aaggtgaaca
     8581 tcaaggaggt atacaccttc gccagtgagc caaacgacgt cttcttcaaa ttagtggaca
     8641 agtccaccga gctcaacgag gagcctttga tgcgcttcgg gaggctgttg ccatccttcg
     8701 tcagcagtga aaatgctttt tacttgtccc cagatatcag gaaacagtgt gattggttcc
     8761 aaggggacca acccacaaag aaccttgtga agtttggtca caaacaagta aatgttccga
     8821 ataacgttac ttcaagtcct acatccaacc cagtgacgac aacgaagccg gtgactacga
     8881 cgaagccggt gaccaccaca acaaagcctg taaccaccac aacaaagcct gtgactatta
     8941 taaatcagcc atctgtgaag ccagccgctg caaagccggc ccctgcgaaa cctgtggctg
     9001 ccaagcctgt ggccacaaag atggccactg ttagaccccc agtggcggtg aagccagcaa
     9061 cggcagcgaa gcctgtagca gcaaagccag cagctgtaag accccccgct gctgctgctg
     9121 caaaaccagt ggcgaccaag cctgaggtcc ctaggccaca ggcagccaaa ccagctgcca
     9181 ccaagccagc caccactaag cccatggtta agatgtcccg tgaagtccag gtgtttgaga
     9241 taacagagaa cagcgccaaa ctccactggg agagggctga gccccccggt ccttattttt
     9301 atgacctcac cgtcacctca gcccatgatc agtccctggt tctgaagcag aacctcacgg
     9361 tcacggaccg cgtcattgga ggcctgctcg ctgggcagac ataccatgtg gctgtggtct
     9421 gctacctgag gtctcaggtc agagccacct accacggaag tttcagtaca aagaaatctc
     9481 agcccccacc tccacagcca gcaaggtcag cttctagttc aaccatcaat ctaatggtga
     9541 gcacagaacc attggctctc actgaaacag atatatgcaa gttgccgaaa gacgaaggaa
     9601 cttgcaggga tttcatatta aaatggtact atgatccaaa caccaaaagc tgtgcaagat
     9661 tctggtatgg aggttgtggt ggaaacgaaa acaaatttgg atcacagaaa gaatgtgaaa
     9721 aggtttgcgc tcctgtgctc gccaaacccg gagtcatcag tgtgatggga acctaagcgt
     9781 gggtggccaa catcatatac ctcttgaaga agaaggagtc agccatcgcc aacttgtctc
     9841 tgtagaagct ccgggtgtag attcccttgc actgtatcat ttcatgcttt gatttacact
     9901 cgaactcggg agggaacatc ctgctgcatg acctatcagt atggtgctaa tgtgtctgtg
     9961 gaccctcgct ctctgtctcc aggcagttct ctcgaatact ttgaatgttg tgtaacagtt
    10021 agccactgct ggtgtttatg tgaacattcc tatcaatcca aattccctct ggagtttcat
    10081 gttatgcctg ttgcaggcaa atgtaaagtc tagaaaataa tgcaaatgtc acggctactc
    10141 tatatacttt tgcttggttc attttttttc ccttttagtt aagcatgact ttagatggga
    10201 agcctgtgta tcgtggagaa acaagagacc aactttttca ttccctgccc ccaatttccc
    10261 agactagatt tcaagctaat tttctttttc tgaagcctct aacaaatgat ctagttcaga
    10321 aggaagcaaa atcccttaat ctatgtgcac cgttgggacc aatgccttaa ttaaagaatt
    10381 taaaaaagtt gtaatagaga atatttttgg cattcctcta atgttgtgtg tttttttttt
    10441 gtgtgtgctg gagggagggg atttaatttt aattttaaaa tgtttaggaa atttatacaa
    10501 agaaactttt taataaagta tattgaaagt tt
//
